ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5923A>G (p.Ile1975Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701894 SCV000830717 uncertain significance Familial adenomatous polyposis 1 2018-05-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1975 of the APC protein (p.Ile1975Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs765104249, ExAC 0.002%). This variant has not been reported in the literature in individuals with APC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000775336 SCV000909607 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-31 criteria provided, single submitter clinical testing

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